Canonical Allele Identifier: CA404254516

Gene: MAN2B1

Linked Data

• gnomAD v4: 19-12664827-C-A
• MyVariant Identifiers: chr19:g.12775641C>A (hg19) ; chr19:g.12664827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12664827C>A , CM000681.2:g.12664827C>A	GRCh38
NC_000019.9:g.12775641C>A , CM000681.1:g.12775641C>A	GRCh37
NC_000019.8:g.12636641C>A	NCBI36
NG_008318.1:g.6951G>T
NG_015814.1:g.3024C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000456935.7:c.595G>T MANE Select	ENSP00000395473.2:p.Gly199Cys
ENST00000221363.8:c.595G>T	ENSP00000221363.4:p.Gly199Cys
ENST00000456935.6:c.595G>T	ENSP00000395473.2:p.Gly199Cys
ENST00000466794.5:n.577G>T
ENST00000486847.2:c.333+525G>T	ENSP00000470174.1:n.333+525G>T
ENST00000596512.5:n.533G>T
NM_000528.3:c.595G>T	NP_000519.2:p.Gly199Cys
NM_001173498.1:c.595G>T	NP_001166969.1:p.Gly199Cys
XM_005259913.1:c.595G>T	XP_005259970.1:p.Gly199Cys
XM_005259913.2:c.595G>T	XP_005259970.1:p.Gly199Cys
XM_024451518.1:c.-424G>T	XP_024307286.1:n.-424G>T
NM_000528.4:c.595G>T MANE Select	NP_000519.2:p.Gly199Cys
NM_001173498.2:c.595G>T	NP_001166969.1:p.Gly199Cys